Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933096_87933098delinsCAA , CM000672.2:g.87933096_87933098delinsCAA	GRCh38
NC_000010.10:g.89692853_89692855delinsCAA , CM000672.1:g.89692853_89692855delinsCAA	GRCh37
NC_000010.9:g.89682833_89682835delinsCAA	NCBI36
NG_007466.2:g.74658_74660delinsCAA , LRG_311:g.74658_74660delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.337_339delinsCAA	ENSP00000514759.2:p.Ser113Gln
ENST00000710265.1:c.337_339delinsCAA	ENSP00000518161.1:p.Ser113Gln
ENST00000472832.3:c.337_339delinsCAA	ENSP00000483066.2:p.Ser113Gln
ENST00000688158.2:n.1072_1074delinsCAA
ENST00000688922.2:c.167_169delinsCAA	ENSP00000508742.2:n.167_169delinsCAA
ENST00000700021.1:c.292_294delinsCAA	ENSP00000514757.1:p.Ser98Gln
ENST00000700022.1:c.337_339delinsCAA	ENSP00000514758.1:p.Ser113Gln
ENST00000700029.1:c.171_173delinsCAA
ENST00000706954.1:c.337_339delinsCAA	ENSP00000516674.1:p.Ser113Gln
ENST00000706955.1:c.372_374delinsCAA	ENSP00000516675.1:n.372_374delinsCAA
ENST00000686459.1:c.337_339delinsCAA	ENSP00000508909.1:p.Ser113Gln
ENST00000688158.1:c.448_450delinsCAA	ENSP00000509254.1:n.448_450delinsCAA
ENST00000688308.1:c.337_339delinsCAA	ENSP00000508752.1:p.Ser113Gln
ENST00000688922.1:c.258_260delinsCAA
ENST00000693560.1:c.856_858delinsCAA	ENSP00000509861.1:p.Ser286Gln
ENST00000371953.8:c.337_339delinsCAA MANE Select	ENSP00000361021.3:p.Ser113Gln
ENST00000371953.7:c.337_339delinsCAA	ENSP00000361021.3:p.Ser113Gln
ENST00000498703.1:n.163_165delinsCAA
ENST00000610634.1:c.235_237delinsCAA	ENSP00000477517.1:p.Ser79Gln
NM_000314.5:c.337_339delinsCAA	NP_000305.3:p.Ser113Gln
NM_000314.6:c.337_339delinsCAA	NP_000305.3:p.Ser113Gln
NM_001304717.2:c.856_858delinsCAA	NP_001291646.2:p.Ser286Gln
NM_001304718.1:c.-414_-412delinsCAA	NP_001291647.1:n.-414_-412delinsCAA
XM_006717926.2:c.292_294delinsCAA	XP_006717989.1:p.Ser98Gln
XM_011539981.1:c.337_339delinsCAA	XP_011538283.1:p.Ser113Gln
XM_011539982.1:c.241_243delinsCAA	XP_011538284.1:p.Ser81Gln
XR_945789.1:n.1049_1051delinsCAA
XR_945790.1:n.1049_1051delinsCAA
XR_945791.1:n.1049_1051delinsCAA
NM_000314.7:c.337_339delinsCAA	NP_000305.3:p.Ser113Gln
NM_001304717.5:c.856_858delinsCAA	NP_001291646.4:p.Ser286Gln
NM_001304718.2:c.-414_-412delinsCAA	NP_001291647.1:n.-414_-412delinsCAA
NM_000314.8:c.337_339delinsCAA MANE Select	NP_000305.3:p.Ser113Gln